L1519P (p.Leu1519Pro) variant of NOTCH3 (Q9UM47)
L1519P (p.Leu1519Pro) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myofibromatosis, infantile, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L1519P (p.Leu1519Pro) variant details
- p.Leu1519Pro
- rs367543285
- ClinGen CA144192
- NCI-TCGA Cosmic COSV5464
- ClinVar RCV000049266
- Pathogenic
- Myofibromatosis, infantile, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.81
- MetaLR 0.79
- MetaSVM 0.74
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (Myofibromatosis, infantile, 2)
- EBI: Pathogenic (in IMF2)
- UniProt: Pathogenic (in IMF2)
- Population evidence available
- Structural context available
- Cited in: Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. (PMID 23731542)